Found: 16
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Shared genetic susceptibility to breast cancer, brain tumors, and Fanconi anemia.
- Published in:
- 2003
- By:
- Publication type:
- journal article
The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans.
- Published in:
- Nature Genetics, 2009, v. 41, n. 7, p. 849, doi. 10.1038/ng.399
- By:
- Publication type:
- Article
Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer.
- Published in:
- Nature Genetics, 2007, v. 39, n. 2, p. 162, doi. 10.1038/ng1947
- By:
- Publication type:
- Article
The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia.
- Published in:
- 2005
- By:
- Publication type:
- Letter
A Rapid Method for Retrovirus-Mediated Identification of Complementation Groups in Fanconi Anemia Patients
- Published in:
- Molecular Therapy, 2005, v. 12, n. 5, p. 976, doi. 10.1016/j.ymthe.2005.04.021
- By:
- Publication type:
- Article
GST genotype may modify clinical phenotype in patients with Fanconi anaemia.
- Published in:
- British Journal of Haematology, 2005, v. 131, n. 1, p. 118, doi. 10.1111/j.1365-2141.2005.05721.x
- By:
- Publication type:
- Article
The Alzheimer’s Association external quality control program for cerebrospinal fluid biomarkers
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2011, v. 7, n. 4, p. 386, doi. 10.1016/j.jalz.2011.05.2243
- By:
- Publication type:
- Article
High-throughput mutational analysis of TOR1A in primary dystonia.
- Published in:
- BMC Medical Genetics, 2009, v. 10, p. 1, doi. 10.1186/1471-2350-10-24
- By:
- Publication type:
- Article
Spectrum of sequence variation in the FANCG gene: An International Fanconi Anemia Registry (IFAR) study.
- Published in:
- 2003
- By:
- Publication type:
- Erratum
Spectrum of sequence variation in the FANCG gene: An International Fanconi Anemia Registry (IFAR) study.
- Published in:
- Human Mutation, 2003, v. 21, n. 2, p. 158, doi. 10.1002/humu.10166
- By:
- Publication type:
- Article
Characteristics of maturity onset diabetes of the young in a large diabetes center.
- Published in:
- Pediatric Diabetes, 2016, v. 17, n. 5, p. 360, doi. 10.1111/pedi.12289
- By:
- Publication type:
- Article
The spectrum of SCN1A-related infantile epileptic encephalopathies.
- Published in:
- Brain: A Journal of Neurology, 2007, v. 130, n. 3, p. 843
- By:
- Publication type:
- Article
A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.
- Published in:
- Human Mutation, 2016, v. 37, n. 1, p. 127, doi. 10.1002/humu.22918
- By:
- Publication type:
- Article
Functional assessment of TSC1 missense variants identified in individuals with tuberous sclerosis complex.
- Published in:
- Human Mutation, 2012, v. 33, n. 3, p. 476, doi. 10.1002/humu.22007
- By:
- Publication type:
- Article
Centromeric alphoid DNA heteromorphisms of chromosome 21 revealed by FISH-technique.
- Published in:
- Clinical Genetics, 1997, v. 51, n. 2, p. 91, doi. 10.1111/j.1399-0004.1997.tb02426.x
- By:
- Publication type:
- Article
Cerebrospinal fluid AΒ<sub>42</sub>, total tau, and phosphorylated tau in the evaluation of Alzheimer's dementia: Experience from a commercial reference laboratory.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2021, v. 17, p. 1, doi. 10.1002/alz.054422
- By:
- Publication type:
- Article